LP61792-5
THRB gene
Active
Description
The THRB gene (thyroid hormone receptor, beta) [HGNC Gene ID:11799] is located on chromosome 3p24.2. The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7068] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- THRB gene
- Part Display Name
- THRB gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-12-12
- Construct for LOINC Short Name
- THRB gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | THRB 基因 Synonyms: ERBA2; |
| et-EE | Estonian (Estonia) | THRB geen |
| es-ES | Spanish (Spain) | Gen THRB |
| it-IT | Italian (Italy) | THRB, gene Synonyms: Gene THRB |
| tr-TR | Turkish (Turkey) | THRB geni |
| ru-RU | Russian (Russian Federation) | THRB ген |
| nl-NL | Dutch (Netherlands) | THRB-gen Synonyms: THRB gen |
| fr-FR | French (France) | THRB gène |
| pl-PL | Polish (Poland) | THRB gen Synonyms: Gen THRB |
| el-GR | Greek (Greece) | Γονίδιο THRB Synonyms: Γονίδιο THRB |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://